Genetics

Next-Gen Sequencing in Genetic Medicine

A new "That's Pediatrics" podcast episode features Lina Ghaloul-Gonzalez, MD, a medical geneticist at UPMC Children’s Hospital of Pittsburgh.

Listen to the episode

The Division of Medical Genetics at UPMC Children's Hospital of Pittsburgh is committed to the treatment and study of genetic disorders in children, providing advanced patient care of the highest quality and an active research program dedicated to providing a deeper understanding of the fundamental issues underlying these disorders and developing better therapeutic approaches.

Clinical services, a critical part of the comprehensive care offered by the Division of Medical Genetics, include diagnosis, evaluation, treatment and management of a range of genetic conditions, such as birth defects, chromosomal abnormalities, specific genetic syndromes and inborn errors of metabolism. These services are organized under two programs: an Inborn Errors of Metabolism Clinic and a General Genetics Clinic. Both offer an experienced team of faculty and staff, including physician geneticists, genetic counselors, a nurse practitioner, metabolic dietitian and social worker.

Inborn Errors of Metabolism Clinic

The Inborn Errors of Metabolism Clinic at Children’s Hospital provides diagnostic services, evaluation, treatment management, genetic counseling and other support to children with these inherited disorders and to their families. A Phenylketonuria Clinic specializes in the diagnosis, treatment and management of one of the most common inborn errors of metabolism.

General Genetics Clinic

The General Genetic Clinic provides diagnostic evaluations, appropriate treatment, follow up and support for children with known or suspected genetic disorders that fall outside the scope of the division’s Inborn Errors of Metabolism Clinic.

Counseling, education and other support services to address all of the needs of patients and their families are also provided. Genetic counselors are available to help to identify families at risk, serve as patient advocates, help families understand genetic disorders and their consequences, provide supportive counseling and counsel families who may be at risk for inherited conditions. Division staff members also help families arrange for physical, occupational and speech therapists, comprehensive developmental assessments and other services and support. Initial General Genetics Clinic appointment(s) must be held at UPMC Children's main campus in Pittsburgh. Follow-up appointments may be available via telemedicine at Children's Specialty Care Center Erie and Children's Specialty Care Center Johnstown.

Research within the division is providing new insight into genetic disorders from which new and better therapies can be developed. The laboratory research program focuses on discovering the underlying causes of genetic diseases, understanding the clinical implications of mutations in genes, and development of novel approaches for treatment of genetic disorders. An active clinical research program collaborates with other genetic programs world wide to evaluate new therapies for genetic disease.

Research and Clinical Studies

As a nationally recognized research center, UPMC Children’s Hospital’s Division of Medical Genetics participates in the latest clinical studies, which involve human volunteers and are intended to add to our medical understanding.

Referral Requirements

Referrals from primary care physicians, medical and social agencies or other UPMC Children’s Hospital specialty services are helpful, but not necessary. Authorization from the patient’s insurance provider and/or primary care physician may be needed for insurance coverage. The Division of Genetic & Genomic Medicine staff can help with these matters. Medical records from previous evaluations performed outside of the UPMC system will be requested. For more information, please call the office at 412-692-5070.